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Aliases for PCDHAC1 Gene

Aliases for PCDHAC1 Gene

  • Protocadherin Alpha Subfamily C, 1 2 3 5
  • PCDH-ALPHA-C1 2 3 4

External Ids for PCDHAC1 Gene

Previous GeneCards Identifiers for PCDHAC1 Gene

  • GC05U990126
  • GC05P140149
  • GC05P140214
  • GC05P140221
  • GC05P140176
  • GC05P140178
  • GC05P140286
  • GC05P140252
  • GC05P140261
  • GC05P140271
  • GC05P140280
  • GC05P140291
  • GC05P140301
  • GC05P140310
  • GC05P140313
  • GC05P140320
  • GC05P140343
  • GC05P135451
  • GC05P140354
  • GC05P140375
  • GC05P140394
  • GC05P140408
  • GC05P140424
  • GC05P140443
  • GC05P140461
  • GC05P141437
  • GC05P141572

Summaries for PCDHAC1 Gene

Entrez Gene Summary for PCDHAC1 Gene

  • This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]

GeneCards Summary for PCDHAC1 Gene

PCDHAC1 (Protocadherin Alpha Subfamily C, 1) is a Protein Coding gene. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is PCDHGA11.

UniProtKB/Swiss-Prot for PCDHAC1 Gene

  • Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PCDHAC1 Gene

Genomics for PCDHAC1 Gene

Regulatory Elements for PCDHAC1 Gene

Enhancers for PCDHAC1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PCDHAC1 on UCSC Golden Path with GeneCards custom track

Promoters for PCDHAC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PCDHAC1 on UCSC Golden Path with GeneCards custom track

Genomic Location for PCDHAC1 Gene

140,926,369 bp from pter
141,012,344 bp from pter
85,976 bases
Plus strand

Genomic View for PCDHAC1 Gene

Genes around PCDHAC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PCDHAC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PCDHAC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PCDHAC1 Gene

Proteins for PCDHAC1 Gene

  • Protein details for PCDHAC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protocadherin alpha-C1
    Protein Accession:
    Secondary Accessions:
    • Q9Y5F5
    • Q9Y5I5

    Protein attributes for PCDHAC1 Gene

    963 amino acids
    Molecular mass:
    103942 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for PCDHAC1 Gene


neXtProt entry for PCDHAC1 Gene

Proteomics data for PCDHAC1 Gene at MOPED

Post-translational modifications for PCDHAC1 Gene

  • Glycosylation at Asn 38, Asn 248, Asn 274, and Asn 562
  • Modification sites at PhosphoSitePlus

Other Protein References for PCDHAC1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PCDHAC1 Gene

Domains & Families for PCDHAC1 Gene

Gene Families for PCDHAC1 Gene

Protein Domains for PCDHAC1 Gene

Suggested Antigen Peptide Sequences for PCDHAC1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 6 cadherin domains.
  • Contains 6 cadherin domains.
genes like me logo Genes that share domains with PCDHAC1: view

Function for PCDHAC1 Gene

Molecular function for PCDHAC1 Gene

UniProtKB/Swiss-Prot Function:
Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.
genes like me logo Genes that share phenotypes with PCDHAC1: view

Animal Models for PCDHAC1 Gene

MGI Knock Outs for PCDHAC1:

Animal Model Products

CRISPR Products

miRNA for PCDHAC1 Gene

miRTarBase miRNAs that target PCDHAC1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PCDHAC1 Gene

Localization for PCDHAC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PCDHAC1 Gene

Cell membrane; Single-pass type I membrane protein.

Subcellular locations from

Jensen Localization Image for PCDHAC1 Gene COMPARTMENTS Subcellular localization image for PCDHAC1 gene
Compartment Confidence
plasma membrane 4

Gene Ontology (GO) - Cellular Components for PCDHAC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with PCDHAC1: view

Pathways & Interactions for PCDHAC1 Gene

SuperPathways for PCDHAC1 Gene

No Data Available

Interacting Proteins for PCDHAC1 Gene

STRING Interaction Network Preview (showing 4 interactants - click image to see details)
Selected Interacting proteins: ENSP00000253807 for PCDHAC1 Gene via STRING

Gene Ontology (GO) - Biological Process for PCDHAC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA,TAS 10380929
genes like me logo Genes that share ontologies with PCDHAC1: view

No data available for Pathways by source and SIGNOR curated interactions for PCDHAC1 Gene

Drugs & Compounds for PCDHAC1 Gene

(1) Drugs for PCDHAC1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
genes like me logo Genes that share compounds with PCDHAC1: view

Transcripts for PCDHAC1 Gene

mRNA/cDNA for PCDHAC1 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for PCDHAC1 Gene

No ASD Table

Relevant External Links for PCDHAC1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PCDHAC1 Gene

mRNA expression in normal human tissues for PCDHAC1 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PCDHAC1 Gene

genes like me logo Genes that share expression patterns with PCDHAC1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for PCDHAC1 Gene

Orthologs for PCDHAC1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PCDHAC1 Gene

Organism Taxonomy Gene Similarity Type Details
(Mus musculus)
Mammalia Pcdhac1 35
  • 85.43 (n)
  • 84.32 (a)
Pcdhac1 16
(Pan troglodytes)
Mammalia PCDHAC1 35
  • 99.55 (n)
  • 99.17 (a)
(Rattus norvegicus)
Mammalia Pcdhac1 35
  • 85.05 (n)
  • 83.7 (a)
(Bos Taurus)
Mammalia PCDHAC1 36
  • 40 (a)
(Ornithorhynchus anatinus)
Mammalia PCDHAC1 36
  • 46 (a)
(Gallus gallus)
Aves CCNRC01 35
  • 63.72 (n)
  • 60.68 (a)
(Anolis carolinensis)
Reptilia PCDHAC1 36
  • 56 (a)
(Danio rerio)
Actinopterygii PCDHAC1 36
  • 34 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 30 (a)
CSA.7308 36
  • 20 (a)
Species with no ortholog for PCDHAC1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PCDHAC1 Gene

Gene Tree for PCDHAC1 (if available)
Gene Tree for PCDHAC1 (if available)

Paralogs for PCDHAC1 Gene

genes like me logo Genes that share paralogs with PCDHAC1: view

Variants for PCDHAC1 Gene

Sequence variations from dbSNP and Humsavar for PCDHAC1 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
VAR_048540 -

Structural Variations from Database of Genomic Variants (DGV) for PCDHAC1 Gene

Variant ID Type Subtype PubMed ID
dgv1856e1 CNV Complex 17122850
dgv1857e1 CNV Complex 17122850
esv2505753 CNV Deletion 19546169

Variation tolerance for PCDHAC1 Gene

Residual Variation Intolerance Score: 72.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.13; 61.32% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for PCDHAC1 Gene

Disorders for PCDHAC1 Gene

Relevant External Links for PCDHAC1

Genetic Association Database (GAD)
Atlas of Genetics and Cytogenetics in Oncology and Haematology:

No disorders were found for PCDHAC1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PCDHAC1 Gene

Publications for PCDHAC1 Gene

  1. A striking organization of a large family of human neural cadherin- like cell adhesion genes. (PMID: 10380929) Wu Q. … Maniatis T. (Cell 1999) 2 3 4 67
  2. Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. (PMID: 22589738) Fox C.S. … Borecki I.B. (PLoS Genet. 2012) 3
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3
  4. Comparative DNA sequence analysis of mouse and human protocadherin gene clusters. (PMID: 11230163) Wu Q. … Maniatis T. (Genome Res. 2001) 3
  5. Genomic organization of the family of CNR cadherin genes in mice and humans. (PMID: 10662547) Sugino H. … Yagi T. (Genomics 2000) 3

Products for PCDHAC1 Gene

Sources for PCDHAC1 Gene